Sindrom Treacher Collins

Sindrom Treacher Collins

Treacher Collins syndrome is a rare genetic disorder that causes impaired facial bone growth and structure . Children with Treacher Collins syndrome generally have an unusual shape of the face, head and ears.

Treacher Collins syndrome is caused by certain gene changes or mutations. Treacher Collins syndrome also has other names, such as mandibulofacial dysostosis (MFD1), zygoauromandibular dysplasia , and Franceschetti-Zwahlen-Klein syndrome .

Treacher Collins syndrome has varying levels of symptom severity, from mild to severe. In severe cases, facial deformities with Treacher Collins syndrome can block the airways. As a result, sufferers can experience potentially life-threatening respiratory problems.

Causes of Treacher Collins Syndrome

Treacher Collins syndrome occurs as a result of  a genetic abnormality  in the TCOF1, POLR1C, or POLR1D genes, which play an important role in the development of bone and muscle tissue in the face.

Mutations in any of these genes cause cells and bone and muscle tissue to die too quickly. As a result, complaints and symptoms appear in the bones and face.

Treacher Collins syndrome is a rare disorder that only occurs in 1 in 50,000 births worldwide. About 40% of these cases are inherited from parents. However, there are also cases of Treacher Collins syndrome that are not related to heredity.

Symptoms of Treacher Collins Syndrome

The symptoms of Treacher Collins syndrome experienced by each sufferer can be different. The severity of the symptoms can also vary, ranging from very mild symptoms and you are not aware of, to symptoms that are very severe and can be life threatening.

Some of the symptoms that sufferers of Treacher Collins syndrome can experience are:

  • Abnormalities in the eyes, such as the position of the eyes that look tilted downwards, small eye size,  crossed eyes , indentations in the eyelids ( coloboma ), few eyelashes, to  blindness
  • Abnormalities in the face, such as a nose that looks bigger because of a smaller face or cheeks that look sunken
  • Deformities in the ear, such as small auricles ( microtia ), are abnormally shaped, or misshapen, and may be accompanied by hearing loss
  • Abnormalities in the mouth, such as  a cleft  or fissure that appears in the lip or palate

In severe conditions, this facial bone and muscle disorder can cause Treacher Collins syndrome sufferers to experience some quite serious symptoms. Examples are dry eye syndrome , sleep disturbances, difficulty swallowing, and respiratory problems that can be life-threatening.

When to see a doctor

The doctor  will immediately provide treatment if he sees a newborn with a number of the symptoms mentioned above. The treatment method used will be adjusted to the severity experienced by the baby.

Diagnosis Sindrom Treacher Collins

Treacher Collins syndrome can be detected since the fetus is in the womb or when the baby is born. Typically, Treacher Collins syndrome is diagnosed through hands-on examination, molecular genetic testing, and scans, as described below:

Molecular genetic test

Molecular genetic tests aim to detect mutations in the gene that causes Treacher Collins syndrome. This test is generally done after the baby is known to be born with symptoms of Treacher's syndrome, but can also be done during pregnancy with amniocentesis and chorionic villus sampling .

Genetic testing  will be done if the baby has two or more of the symptoms of Treacher Collins syndrome, such as a cleft palate and a very small jaw. It is known that about 86% of Treacher Collins syndrome sufferers have mutations in the TCOF1 gene.


Scanning aims to help doctors plan the process of improving the structure and shape of the patient's face. Types of scans that can be done include ultrasound , X-rays,  CT scans , and MRI.

Ultrasound is usually done during the second trimester of pregnancy to detect fetal facial abnormalities. Meanwhile,  X-ray scans, CT scans, and MRI can be done to analyze the condition of the baby's bones and facial muscles after birth.

Treatment of Treacher Collins Syndrome

Until now, there is no treatment that can cure Treacher Collins syndrome. Treatment given by doctors is still limited to improving the bone structure and facial muscles so as to prevent complications that may arise.

There are several types of operations that can be performed, namely:

  • Tracheostomy , to make a hole in the neck as direct access to the respiratory tract if the patient has difficulty breathing
  • Cleft lip surgery , to repair cleft lip or cleft palate
  • Facial bone reconstruction surgery, to improve the shape of the jaw and other bones in the face.
  • Eyelid surgery , to correct imperfect eyelid shape
  • Ear reconstructive surgery, to repair the structure of the ear

In addition, the use  of hearing aids  and speech therapy can be done to help patients who have hearing loss or difficulty communicating. Cochlear implant placement can also be considered to help the patient's hearing.

Currently, research on  stem cell therapy  is being developed to treat Treacher Collins syndrome. Stem cell therapy is thought to trigger tissue growth.

Children with Treacher Collins syndrome generally have the same intellectual level and life expectancy as people without this disorder. Even so, facial deformities can be a burden for people with Treacher Collins syndrome, especially when socializing with other people.

Therefore, in addition to the series of treatments previously mentioned, people with Treacher Collins syndrome also need support from their families and those around them.

Treacher Collins Syndrome Complications

Sufferers of Treacher Collins syndrome can experience several conditions due to bone and muscle disorders they experience, namely:

  • Difficulty eating due to cleft lip or palate
  • Difficulty breathing due to deformity of the airways
  • Sleep apnea  due to disturbances in the respiratory tract
  • Hearing loss to loss of hearing ability due to abnormalities in the auditory canal and the bones in it
  • Speech disorders due to deformities of the chin and mouth, or due to deafness
  • An increased risk of developing eye infections due to eye deformities that make the eyes dry easily

Prevention of Treacher Collins Syndrome

Treacher Collins syndrome is a genetic disorder that is difficult to prevent. However, if you or your partner has a family with Treacher Collin syndrome, it is best to have a genetic screening and consultation before planning a pregnancy.

In addition, to ensure the health and development of the fetus, pregnant women are also advised to routinely carry out prenatal checks according to a predetermined schedule.

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